| MeSH term | MeSH ID | Detail |
|---|---|---|
| Brain Diseases | D001927 | 27 associated lipids |
| Abnormalities, Multiple | D000015 | 13 associated lipids |
| Intellectual Disability | D008607 | 13 associated lipids |
| Metabolism, Inborn Errors | D008661 | 46 associated lipids |
| Leukocytosis | D007964 | 9 associated lipids |
| Lipid Metabolism, Inborn Errors | D008052 | 26 associated lipids |
| Glomerulonephritis | D005921 | 35 associated lipids |
| Brain Diseases, Metabolic, Inborn | D020739 | 10 associated lipids |
| Vomiting | D014839 | 21 associated lipids |
| Central Nervous System Diseases | D002493 | 10 associated lipids |
Ethylmalonic acid
Ethylmalonic acid is a lipid of Fatty Acyls (FA) class. Ethylmalonic acid is associated with abnormalities such as Petechiae and Metabolic Diseases. The involved functions are known as Oxidation, Catabolic Process, Excretory function and Acidemia. Ethylmalonic acid often locates in Mitochondria. The associated genes with Ethylmalonic acid are N-caproylglycine and ETHE1 gene. The related lipids are Fatty Acids and sebacic acid.
Cross Reference
Introduction
To understand associated biological information of Ethylmalonic acid, we collected biological information of abnormalities, associated pathways, cellular/molecular locations, biological functions, related genes/proteins, lipids and common seen animal/experimental models with organized paragraphs from literatures.
What diseases are associated with Ethylmalonic acid?
Ethylmalonic acid is suspected in Petechiae, Metabolic Diseases and other diseases in descending order of the highest number of associated sentences.
Related references are mostly published in these journals:
| Disease | Cross reference | Weighted score | Related literature |
|---|
Loading... please refresh the page if content is not showing up.
Possible diseases from mapped MeSH terms on references
We collected disease MeSH terms mapped to the references associated with Ethylmalonic acid
PubChem Associated disorders and diseases
What pathways are associated with Ethylmalonic acid
Lipid pathways are not clear in current pathway databases. We organized associated pathways with Ethylmalonic acid through full-text articles, including metabolic pathways or pathways of biological mechanisms.
Related references are published most in these journals:
| Pathway name | Related literatures |
|---|
Loading... please refresh the page if content is not showing up.
PubChem Biomolecular Interactions and Pathways
Link to PubChem Biomolecular Interactions and PathwaysWhat cellular locations are associated with Ethylmalonic acid?
Visualization in cellular structure
Associated locations are in red color. Not associated locations are in black.
Related references are published most in these journals:
| Location | Cross reference | Weighted score | Related literatures |
|---|
Loading... please refresh the page if content is not showing up.
What functions are associated with Ethylmalonic acid?
Related references are published most in these journals:
| Function | Cross reference | Weighted score | Related literatures |
|---|
What lipids are associated with Ethylmalonic acid?
Related references are published most in these journals:
| Lipid concept | Cross reference | Weighted score | Related literatures |
|---|
Loading... please refresh the page if content is not showing up.
What genes are associated with Ethylmalonic acid?
Related references are published most in these journals:
| Gene | Cross reference | Weighted score | Related literatures |
|---|
What common seen animal models are associated with Ethylmalonic acid?
There are no associated biomedical information in the current reference collection.
NCBI Entrez Crosslinks
All references with Ethylmalonic acid
Download all related citations| Authors | Title | Published | Journal | PubMed Link |
|---|---|---|---|---|
| Herdman MT et al. | The role of previously unmeasured organic acids in the pathogenesis of severe malaria. | 2015 | Crit Care | pmid:26343146 |
| Pavlou E et al. | An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder. | 2013 | J. Child Neurol. | pmid:22805253 |
| Schuck PF et al. | Ethylmalonic acid modulates Na+, K(+)-ATPase activity and mRNA levels in rat cerebral cortex. | 2013 | Synapse | pmid:23161776 |
| Amaral AU et al. | Ethylmalonic acid impairs brain mitochondrial succinate and malate transport. | 2012 | Mol. Genet. Metab. | pmid:22133302 |
| Dweikat I et al. | Ethylmalonic encephalopathy associated with crescentic glomerulonephritis. | 2012 | Metab Brain Dis | pmid:22584649 |
| Gallant NM et al. | Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. | 2012 | Mol. Genet. Metab. | pmid:22424739 |
| Tomlinson L et al. | Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs. | 2012 | Toxicol. Sci. | pmid:22821849 |
| Schmidt SP et al. | Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase. | 2011 | J. Inherit. Metab. Dis. | pmid:21170680 |
| Westermann CM et al. | Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD. | 2011 | Mol. Genet. Metab. | pmid:21843962 |
| Linster CL et al. | Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. | 2011 | J. Biol. Chem. | pmid:22016388 |
| Zolkipli Z et al. | Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants. | 2011 | PLoS ONE | pmid:21483766 |
| Rodenburg RJ | Biochemical diagnosis of mitochondrial disorders. | 2011 | J. Inherit. Metab. Dis. | pmid:20440652 |
| Bosch AM et al. | Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. | 2011 | J. Inherit. Metab. Dis. | pmid:21110228 |
| Barth M et al. | Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. | 2010 | J. Inherit. Metab. Dis. | pmid:20978941 |
| Schuck PF et al. | Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid. | 2010 | Neurochem. Res. | pmid:19757035 |
| van Maldegem BT et al. | Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. | 2010 | Pediatr. Res. | pmid:19952864 |
| Pedersen CB et al. | Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. | 2010 | J. Inherit. Metab. Dis. | pmid:20443061 |
| Viscomi C et al. | Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. | 2010 | Nat. Med. | pmid:20657580 |
| Zannolli R et al. | Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction. | 2010 | NMR Biomed | pmid:20187168 |
| van Maldegem BT et al. | Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. | 2010 | J. Inherit. Metab. Dis. | pmid:20429031 |
| Chae JH et al. | Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect. | 2010 | Korean J Pediatr | pmid:21253313 |
| DiMauro S | Pathogenesis and treatment of mitochondrial myopathies: recent advances. | 2010 | Acta Myol | pmid:21314015 |
| Skovran E et al. | A systems biology approach uncovers cellular strategies used by Methylobacterium extorquens AM1 during the switch from multi- to single-carbon growth. | 2010 | PLoS ONE | pmid:21124828 |
| Das AM et al. | Inborn errors of energy metabolism associated with myopathies. | 2010 | J. Biomed. Biotechnol. | pmid:20589068 |
| Doboszewski B et al. | 6-[Bis(ethoxycarbonyl)methyl]-6-deoxy-1,2;3,4-di-O-isopropyl-idene-d-galacto-pyran-ose. | 2010 | Acta Crystallogr Sect E Struct Rep Online | pmid:21589509 |
| Takei M et al. | Ethylene glycol monomethyl ether-induced toxicity is mediated through the inhibition of flavoprotein dehydrogenase enzyme family. | 2010 | Toxicol. Sci. | pmid:20616209 |
| Schuck PF et al. | Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit. | 2009 | Behav. Brain Res. | pmid:18950661 |
| Tiranti V et al. | Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. | 2009 | Nat. Med. | pmid:19136963 |
| Okuyaz C et al. | Severe infantile hypotonia with ethylmalonic aciduria: case report. | 2008 | J. Child Neurol. | pmid:18539996 |
| Pedersen CB et al. | The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. | 2008 | Hum. Genet. | pmid:18523805 |
| Westermann CM et al. | Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. | 2008 | Neuromuscul. Disord. | pmid:18406615 |
| Plecko B | Lessons to learn from rare inborn errors of metabolism. | 2007 | Neuropediatrics | pmid:17712731 |
| Zafeiriou DI et al. | Ethylmalonic encephalopathy: clinical and biochemical observations. | 2007 | Neuropediatrics | pmid:17712735 |
| Bross P et al. | Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. | 2007 | J. Hum. Genet. | pmid:17072495 |
| Heberle LC et al. | Ethylmalonic encephalopathy-report of two cases. | 2006 | Brain Dev. | pmid:16376514 |
| Merinero B et al. | Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. | 2006 | J. Inherit. Metab. Dis. | pmid:16906473 |
| van Maldegem BT et al. | Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. | 2006 | JAMA | pmid:16926354 |
| Di Rocco M et al. | A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. | 2006 | Mol. Genet. Metab. | pmid:16828325 |
| Barschak AG et al. | Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle. | 2006 | Metab Brain Dis | pmid:16773466 |
| Ferreira Gda C et al. | Effect of in vivo administration of ethylmalonic acid on energy metabolism in rat tissues. | 2006 | Metab Brain Dis | pmid:16773468 |
| Tiranti V et al. | ETHE1 mutations are specific to ethylmalonic encephalopathy. | 2006 | J. Med. Genet. | pmid:16183799 |
| Gordon N | Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement. | 2005 | Dev Med Child Neurol | pmid:15739728 |
| Read MH et al. | Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria. | 2005 | J. Inherit. Metab. Dis. | pmid:16435212 |
| Rinaldo P et al. | Recent developments and new applications of tandem mass spectrometry in newborn screening. | 2004 | Curr. Opin. Pediatr. | pmid:15273505 |
| Tiranti V et al. | Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. | 2004 | Am. J. Hum. Genet. | pmid:14732903 |
| McGowan KA et al. | The role of methionine in ethylmalonic encephalopathy with petechiae. | 2004 | Arch. Neurol. | pmid:15096407 |
| Leipnitz G et al. | Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro. | 2003 | Neurochem. Res. | pmid:12716029 |
| Seidel J et al. | Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. | 2003 | J. Inherit. Metab. Dis. | pmid:12872838 |
| Fu X et al. | Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. | 2003 | J. Inherit. Metab. Dis. | pmid:12872841 |
| Liang Y et al. | [Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. | 2003 | Zhonghua Er Ke Za Zhi | pmid:14723814 |